Article
Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.
European journal of neurology - 1 Nov 2021
Xie Yongzhi, Lin Zhiqiang, Liu Lei, Li Xiaobo, Huang Shunxiang, Zhao Huadong, Wang Binghao, Zeng Sen, Cao Wanqian, Li Lu, Zhu Xiying, Huang Siwei, Yang Honglan, Wang Mengli, Hu Zhengmao, Wang Junling, Guo Jifeng, Shen Lu, Jiang Hong, Zuchner Stephan, Tang Beisha, Zhang Ruxu
Abstract excerpt
BACKGROUND AND PURPOSE: The purpose was to provide an overview of genotype and phenotype distribution in a cohort of patients with Charcot-Marie-Tooth disease (CMT) and related disorders from central south China. METHODS: In all, 435 patients were enrolled and detailed clinical data were collected. Multiplex ligation-dependent probe amplification for PMP22 duplication/deletion and CMT multi-gene panel sequencing...
Topics
- Adaptor Proteins, Signal Transducing
- Apoptosis Regulatory Proteins
- Charcot-Marie-Tooth Disease
- China
- DNA-Binding Proteins
- Genotype
- Humans
- Phenotype
- Transcription Factors